Q10* (p.Gln10Ter) variant of SMPD1 (Sphingomyelin phosphodiesterase)

Name: SMPD1 Q10* (p.Gln10Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-19
License: https://catvariant.com/terms-of-use

Q10* (p.Gln10Ter) in SMPD1 (Sphingomyelin phosphodiesterase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.

Q10* (p.Gln10Ter) variant details

p.Gln10Ter
rs1205990349
ClinGen CA379366496
ClinVar RCV000664760
ClinVar RCV001386465
Pathogenic
Stop Gained
EBI: Pathogenic
UniProt: Pathogenic
Structural context available
Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)